A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422358



Internal ID8253141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75347864..75422865hg38UCSC Ensembl
Innerchr16:75381762..75456763hg19UCSC Ensembl
Innerchr16:73939263..74014264hg18UCSC Ensembl
Innerchr16:73939263..74014264hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3875002
hg1975002
hg1875002
hg1775002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161262
SamplesND00728
Known GenesCFDP1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422358
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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